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词汇介绍
拓展阅读
解析
Galactosemia 英/ɡə'læktə'sɪmɪə/ 美/ɡə,læktə'simiə/
释 义 n. [遗] 半乳糖血（症）
例 句 The classical form of galactosemia is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth. 半乳糖血症的典型症状是婴儿出生几天后出现呕吐，腹泻，黄疸和营养不能被吸收。
概述
概述
半乳糖血症是一种罕见的遗传代谢疾病，会影响个体正常代谢半乳糖的能力。半乳糖血症遵循常染色体隐性遗传方式，该方式使得负责半乳糖降解的酶缺乏。半乳糖血症以常染色体隐性方式遗传，这意味着孩子必须从每个父母那里遗传一个有缺陷的基因才能显示出这种疾病。杂合子是载体，因为它们继承一个正常基因和一个缺陷基因，携带者没有半乳糖血症的症状。
诊断方法
新生儿筛查（NBS）（如果可用）能够诊断大多数受影响的婴儿。如果婴儿一家有半乳糖血症的病史，医生可以在出生前通过从胎儿周围（羊膜腔穿刺术）或胎盘（绒毛膜绒毛取样或CVS）中抽取体液进行测试。半乳糖血症测试是一种血液测试（从婴儿的脚后跟开始）或尿液测试，用于检查三种酶，这些酶需要将牛奶和奶制品中发现的半乳糖转化为葡萄糖，人体将其转化为能量。半乳糖血症的人没有这些酶之一，这会导致血液或尿液中半乳糖含量高。
治疗方法
经典半乳糖血症的唯一治疗方法是从饮食中消除乳糖和半乳糖。然而，即使早期诊断并限制饮食，一些半乳糖血症患者仍会出现长期并发症，例如言语困难，学习障碍，神经功能缺损（例如震颤等）和卵巢衰竭。症状与杜阿尔特半乳糖血症无关，许多患有杜阿尔特半乳糖血症的人根本不需要限制饮食。但是，研究证实了先前被忽视的理论，即杜阿尔特半乳糖血症可能导致无临床症状的儿童出现语言发育问题。患有经典半乳糖血症的婴儿由于母乳中的乳糖而无法母乳喂养，通常以大豆为基础的配方喂养。半乳糖血症有时会与乳糖不耐症混淆，但是半乳糖血症是一种更为严重的疾病。乳糖不耐症患者的乳糖酶缺乏或遗传，在摄入乳制品后会出现腹痛，但没有长期影响。相反，食用半乳糖的半乳糖血症个体可能会对其身体造成永久性损害。
Cognitive functioning in patients with classical galactosemia: a systematic review
复制标题
经典半乳糖血症患者认知功能的系统评价
发表时间：2019-10-18
影响指数：3.7
作者： Merel E Hermans
期刊：Orphanet J Rare Dis
The current systematic review examined the incidence of cognitive impairment in patients with CG and reviewed the impairment in specific cognitive domains. Eleven studies were identified, including three case reports and one case-series. Of the eight studies investigating multiple patients, the quality was in seven studies moderate to low. Moreover, the number of studies per cognitive domain was low. The review revealed that large differences exist amongst patients with CG. The averaged performance of the patients reported in each group study was often on a below average to low level, while a proportion of the patients performed on an impaired level. Twenty to 40 % of the patients performed on an impaired level on attention and memory, and, according to one study, on working memory. The range of vocabulary performances of the individual patients also exceeded the level of impairment, however specific percentages of the proportion of patients performing on an impaired level remained unknown. Evidence for impairments in other aspects of language functioning was mainly limited to case studies. The average level of performance did reach an impaired level for information processing speed, space perception, cognitive flexibility and cognitive inhibition, but the evidence was based on only a small number of studies. There is some indication that abstract thinking and visuoconstruction are relatively spared. Social cognition was not investigated at all. These results suggest that specific cognitive impairments indeed underlie the lower level of intellectual functioning. However, a specific cognitive profile cannot be determined due to individual differences between patients and limited number of merely small studies. A large number of studies investigating cognition in CG was excluded in this review since they only utilized developmental screening- or intelligence batteries. This represents the initial main focus on clinically assessing developmental delay and intelligence only in patients with CG.
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